Per Med
November 2023
Noninvasive prenatal tests for monogenic diseases (NIPT-SGG) have recently been reported as helpful in early-stage antenatal screening. Our study describes the clinical and genetic features of cases identified by NIPT-SGG. In a cohort pregnancy with abnormal sonograms, affected cases were confirmed by invasive diagnostic tests concurrently, with NIPT-SGG targeting 25 common dominant single-gene diseases.
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September 2023
Over 60% of single-gene diseases in newborns are autosomal dominant variants. Noninvasive prenatal testing for monogenic conditions (NIPT-SGG) is cost-effective and timesaving, but not widely applied. This study introduces and validates NIPT-SGG in detecting 25 monogenic conditions.
View Article and Find Full Text PDFBackground: Existing module-based differential co-expression methods identify differences in gene-gene relationships across phenotype or exposure structures by testing for consistent changes in transcription abundance. Current methods only allow for assessment of co-expression variation across a singular, binary or categorical exposure or phenotype, limiting the information that can be obtained from these analyses.
Methods: Here, we propose a novel approach for detection of differential co-expression that simultaneously accommodates multiple phenotypes or exposures with binary, ordinal, or continuous data types.
Mol Genet Genomic Med
July 2022
Unlabelled: Anxiety is a major mental disorder in later life that impacts on activities of daily living and quality of life for adults living with dementia in nursing homes. The aim of this article was to systematically review nonpharmacological interventions for older adults living in nursing homes who experience comorbid anxiety and dementia.
Method: A systematic literature search was conducted across key databases (Cinahl, ASSIA, Cochrane reviews and trials, psycARTICLES, psycINFO, and PubMed) to identify studies measuring anxiety as an outcome for an intervention for older adults living with dementia in nursing homes, up to December 31, 2017.
The objective of this systematic review is to identify, critically appraise and synthesize the best available literature regarding experiences and perceptions of family-staff relationships in the care of people with dementia living in residential aged care facilities.More specifically, the objectives are to identify family caregiver and healthcare staff experiences and perceptions of their own and each other's roles and responsibilities and the characteristics that facilitate or hinder a constructive family-staff relationship.
View Article and Find Full Text PDFReview Question/objective: The objective of this review is to identify and appraise existing evidence regarding the effectiveness of interventions designed to enhance staff-family relationships for people with dementia living in residential aged care facilities.More specifically, the objectives are to identify the effectiveness of constructive communication, cooperation programs, and practices or strategies to enhance family-staff relationships. The effectiveness of these interventions will be measured by comparing the intervention to no intervention, comparing one intervention with another, or comparing pre- and post-interventions.
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